Ataxia-Telangiectasia

Ataxia-Telangiectasia (A-T), alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T is a rare inherited disorder that affects an estimated 1:40,000 – 100,000 people worldwide. Mutations in the ATM gene cause progressive degeneration to the cerebellum, central nervous system (CNS), and immune system, resulting in cognitive and physical decline and premature death

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